Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
4 0.827 0.320 4 150583180 missense variant C/G;T snv 0.800 1.000 2 2014 2015
Anophthalmos
CUI: C0003119
Disease: Anophthalmos
6 0.827 0.320 4 150583180 missense variant C/G;T snv 0.010 1.000 1 2014 2014
Eye Abnormalities
CUI: C0015393
Disease: Eye Abnormalities
3 0.827 0.320 4 150583180 missense variant C/G;T snv 0.010 1.000 1 2018 2018
Microphthalmia and mental deficiency
6 0.827 0.320 4 150583180 missense variant C/G;T snv 0.010 1.000 1 2014 2014
Microphthalmos co-occurrent with congenital ocular coloboma
6 0.827 0.320 4 150583180 missense variant C/G;T snv 0.010 1.000 1 2014 2014
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
26 0.827 0.320 4 150583180 missense variant C/G;T snv 0.010 1.000 1 2015 2015
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.827 0.320 4 150583180 missense variant C/G;T snv 0.010 1.000 1 2015 2015